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Familial Neurological Disease Associated With Spongiform Encephalopathy
N. Paul Rosenthal, MD, PhD;
John Keesey, MD;
Barbara Crandall, MD;
W. Jann Brown, MD
Arch Neurol. 1976;33(4):252-259.
Abstract
• In a family in whom susceptibility to neurological disease was transmitted in autosomal dominant fashion, the diseases affecting different family members ranged from subacute and chronic dementias to various motor system abnormalities without dementia. The propositus suffered a typical clinical course of Creutzfeldt-Jakob disease. Neuropathological observations revealed spongiform encephalopathy. A first cousin had a chronic dementia; no spongiform changes were present at autopsy. Both patients had PAS-positive, eosinophilic plaques throughout the brain. Muscle biopsy of the propositus revealed some changes suggestive of "ragged-red" myopathy. The heterogeneity of disease and the inheritance pattern in this family suggests that general susceptibility to neurological disease is a genetic trait.
Author Affiliations
From the departments of neurology (Drs Keesey and Rosenthal), physiology (Dr Rosenthal), medical genetics (Dr Crandall), and pathology (Dr Brown), University of California, The Center for the Health Sciences, Los Angeles.
Footnotes
Accepted for publication April 28, 1975.
Reprint requests to Division of Neurology, Sepulveda Veterans Administration Hospital, 16111 Plummer St, Sepulveda, CA 91373 (Dr Rosenthal).
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